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Article

A novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.

Asian Pacific journal of allergy and immunology - 1 Sept 2014

Liu Po-Ning, Li Hong, Li Qiang, Yin Zhong-Wei, Zhou Chen-Yan, Jiang Ming-Yan, Guo Xia

Abstract excerpt

X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extremely decreased IgG...

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PMID: 25268346
DOI: 10.12932/AP0365.32.3.2014

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